Canonical Allele Identifier: CA360807374

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726386A>C (hg19) ; chr5:g.132390694A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390694A>C , CM000667.2:g.132390694A>C	GRCh38
NC_000005.9:g.131726386A>C , CM000667.1:g.131726386A>C	GRCh37
NC_000005.8:g.131754285A>C	NCBI36
NG_008982.1:g.25986A>C
NG_008982.2:g.25991A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.898A>C	ENSP00000388838.2:p.Thr300Pro
ENST00000435065.7:c.1129A>C	ENSP00000402760.2:p.Thr377Pro
ENST00000448810.6:c.1053-82A>C	ENSP00000401860.2:n.1053-82A>C
ENST00000685543.1:n.1198A>C
ENST00000686757.1:c.*221A>C	ENSP00000510721.1:n.*221A>C
ENST00000687740.1:n.3742A>C
ENST00000688151.1:n.2367A>C
ENST00000689271.1:c.904A>C	ENSP00000510797.1:p.Thr302Pro
ENST00000690900.1:c.*221A>C	ENSP00000510703.1:n.*221A>C
ENST00000692212.1:n.2669A>C
ENST00000692355.1:c.310A>C
ENST00000692413.1:c.1039A>C	ENSP00000509374.1:p.Thr347Pro
ENST00000692825.1:c.1125A>C	ENSP00000509447.1:n.1125A>C
ENST00000693308.1:c.1105A>C	ENSP00000509770.1:p.Thr369Pro
ENST00000693763.1:n.2217A>C
ENST00000245407.8:c.1057A>C MANE Select	ENSP00000245407.3:p.Thr353Pro
ENST00000245407.7:c.1057A>C	ENSP00000245407.3:p.Thr353Pro
ENST00000435065.6:c.1129A>C	ENSP00000402760.2:p.Thr377Pro
ENST00000447841.5:c.111+1673A>C
ENST00000448810.5:c.401-82A>C
ENST00000461013.5:n.8479A>C
ENST00000475308.1:n.1735A>C
ENST00000479605.5:n.160A>C
NM_001308122.1:c.1129A>C	NP_001295051.1:p.Thr377Pro
NM_003060.3:c.1057A>C	NP_003051.1:p.Thr353Pro
XM_011543590.1:c.439A>C	XP_011541892.1:p.Thr147Pro
XR_427718.1:n.1417A>C
XR_948290.1:n.1393+1673A>C
XR_948291.1:n.1411A>C
XM_011543590.2:c.439A>C	XP_011541892.1:p.Thr147Pro
XM_017009778.2:c.529A>C	XP_016865267.1:p.Thr177Pro
XR_001742215.1:n.1394-82A>C
XR_001742216.1:n.1413-82A>C
XR_427718.2:n.1417A>C
XR_948290.2:n.1393+1673A>C
XR_948291.2:n.1411A>C
NM_003060.4:c.1057A>C MANE Select	NP_003051.1:p.Thr353Pro
NM_001308122.2:c.1129A>C	NP_001295051.1:p.Thr377Pro